Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 16 | 11254001 | intron variant | T/C;G | snv |
|
Skin and Connective Tissue Diseases | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
16 | 11254849 | missense variant | C/G;T | snv | 5.0E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 16 | 11255517 | 5 prime UTR variant | T/A | snv | 3.8E-03 | 4.1E-03 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1.000 | 0.120 | 16 | 11257354 | intron variant | A/G | snv | 0.20 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.120 | 16 | 11254001 | intron variant | T/C;G | snv |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.120 | 16 | 11254001 | intron variant | T/C;G | snv |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.240 | 16 | 11257134 | intron variant | C/T | snv | 0.49 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.020 | 1.000 | 2 | 2009 | 2019 | |||||||
|
0.851 | 0.240 | 16 | 11257134 | intron variant | C/T | snv | 0.49 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.240 | 16 | 11257134 | intron variant | C/T | snv | 0.49 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.240 | 16 | 11257134 | intron variant | C/T | snv | 0.49 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.240 | 16 | 11254354 | intron variant | C/G;T | snv |
|
Digestive System Diseases; Infections | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.240 | 16 | 11254354 | intron variant | C/G;T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.240 | 16 | 11254354 | intron variant | C/G;T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.240 | 16 | 11254354 | intron variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.200 | 16 | 11256298 | intron variant | C/A;G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.200 | 16 | 11256298 | intron variant | C/A;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 |